MCID: PYR011
MIFTS: 34

Pyropoikilocytosis malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pyropoikilocytosis

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Aliases & Descriptions for Pyropoikilocytosis:

Name: Pyropoikilocytosis 51 12
Hereditary Pyropoikilocytosis 47 24 69 26 67
Hpp 24 69
 
Pyropoikilocytosis, Hereditary 49
Pyropoikilocytosis Hereditary 47

Characteristics:

HPO:

63
pyropoikilocytosis:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 266140
MedGen36 C0520739

Summaries for Pyropoikilocytosis

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OMIM:51 Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia... (266140) more...

MalaCards based summary: Pyropoikilocytosis, also known as hereditary pyropoikilocytosis, is related to hypophosphatasia, childhood and hereditary elliptocytosis, and has symptoms including hemolytic anemia, elliptocytosis and microspherocytosis. An important gene associated with Pyropoikilocytosis is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and L1CAM interactions. Affiliated tissues include testes.

UniProtKB/Swiss-Prot:69 Hereditary pyropoikilocytosis: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.

Wikipedia:70 Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by... more...

Related Diseases for Pyropoikilocytosis

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Diseases related to Pyropoikilocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatasia, childhood10.8
2hereditary elliptocytosis10.3
3hereditary spherocytosis9.9
4malaria9.8
5hemolytic anemia9.8
6congenital hemolytic anemia9.8
7pupil disease9.5SPTA1, SPTB
8plasmodium vivax malaria9.5SPTA1, SPTB
9hepatitis9.3SPTA1, SPTB

Graphical network of diseases related to Pyropoikilocytosis:



Diseases related to pyropoikilocytosis

Symptoms for Pyropoikilocytosis

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Symptoms by clinical synopsis from OMIM:

266140

Clinical features from OMIM:

266140

Human phenotypes related to Pyropoikilocytosis:

 63
id Description HPO Frequency HPO Source Accession
1 hemolytic anemia63 HP:0001878
2 elliptocytosis63 HP:0004445
3 microspherocytosis63 HP:0004835
4 pyropoikilocytosis63 HP:0004839

Drugs & Therapeutics for Pyropoikilocytosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Novel Mutation of the Spectrin GeneCompletedNCT00723567

Search NIH Clinical Center for Pyropoikilocytosis

Genetic Tests for Pyropoikilocytosis

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Genetic tests related to Pyropoikilocytosis:

id Genetic test Affiliating Genes
1 Hereditary Pyropoikilocytosis26 24 SPTA1

Anatomical Context for Pyropoikilocytosis

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MalaCards organs/tissues related to Pyropoikilocytosis:

35
Testes

Animal Models for Pyropoikilocytosis or affiliated genes

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Publications for Pyropoikilocytosis

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Articles related to Pyropoikilocytosis:

(show all 40)
idTitleAuthorsYear
1
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. (27667160)
2016
2
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. (26377499)
2015
3
Transfusion medicine illustrated. Red blood cell anomalies in the context of hereditary pyropoikilocytosis. (22882093)
2012
4
Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. (21054813)
2011
5
Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis. (18492110)
2008
6
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. (18815189)
2008
7
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. (18454487)
2008
8
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. (17279012)
2007
9
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. (16150946)
2005
10
Hereditary pyropoikilocytosis and the spectrin St. Claude allele. (14687038)
2004
11
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. (8755921)
1996
12
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575)
1996
13
Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis. (7795252)
1995
14
Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children. (8418610)
1993
15
Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. (8364214)
1993
16
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. (1541680)
1992
17
Hereditary pyropoikilocytosis: A case report with thermal studies and scanning electron microscopy. (17590771)
1991
18
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. (1878597)
1991
19
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. (1845156)
1991
20
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. (2328319)
1990
21
Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis. (2364170)
1990
22
Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. (2346784)
1990
23
Malaria, hereditary elliptocytosis, and pyropoikilocytosis. (2564967)
1989
24
Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. (3167214)
1988
25
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression. (3692477)
1987
26
Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. (3620700)
1987
27
Clinical and laboratory study of two Caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis. (3604989)
1987
28
Partial spectrin deficiency in hereditary pyropoikilocytosis. (3955236)
1986
29
Abnormal transbilayer mobility of phosphatidylcholine in hereditary pyropoikilocytosis reflects the increased heat sensitivity of the membrane skeleton. (3995028)
1985
30
Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. (6476002)
1984
31
Abnormalities in spectrin structure and function in hereditary pyropoikilocytosis and hereditary elliptocytosis. (6473460)
1984
32
Identification of the hereditary pyropoikilocytosis carrier state. (6722357)
1984
33
Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis. (6863544)
1983
34
Molecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit. (6640107)
1983
35
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. (7099765)
1982
36
The pyropoikilocytosis-elliptocytosis syndrome in a black South African infant: clinical and hematological features. (7149173)
1982
37
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. (7130392)
1982
38
Altered assembly of spectrin in red cell membranes in hereditary pyropoikilocytosis. (7448405)
1981
39
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. (7276161)
1981
40
Effect of heat on the circular dichroism of spectrin in hereditary pyropoikilocytosis. (447859)
1979

Variations for Pyropoikilocytosis

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UniProtKB/Swiss-Prot genetic disease variations for Pyropoikilocytosis:

69
id Symbol AA change Variation ID SNP ID
1SPTA1p.Lys48ArgVAR_001335rs121918644
2SPTA1p.Leu207ProVAR_001339rs121918643

Clinvar genetic disease variations for Pyropoikilocytosis:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1SPTBNM_001024858.2(SPTB): c.6053C> G (p.Ala2018Gly)SNVPathogenicrs121918647GRCh37Chr 14, 65234547: 65234547
2SPTA1NM_003126.2(SPTA1): c.135G> T (p.Arg45Ser)SNVPathogenicrs121918637GRCh37Chr 1, 158655027: 158655027
3SPTA1NM_003126.2(SPTA1): c.82C> A (p.Arg28Ser)SNVPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
4SPTA1NM_003126.2(SPTA1): c.82C> T (p.Arg28Cys)SNVPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
5SPTA1NM_003126.2(SPTA1): c.83G> A (p.Arg28His)SNVPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
6SPTA1NM_003126.2(SPTA1): c.620T> C (p.Leu207Pro)SNVPathogenicrs121918643GRCh37Chr 1, 158650431: 158650431
7SPTA1NM_003126.2(SPTA1): c.143A> G (p.Lys48Arg)SNVPathogenicrs121918644GRCh37Chr 1, 158655019: 158655019
8SPTA1NM_003126.2(SPTA1): c.2373C> A (p.Asp791Glu)SNVPathogenicrs7418956GRCh37Chr 1, 158632583: 158632583
9SPTA1SPTA1, EX5DEL, SVA RETROTRANSPOSON INSindelPathogenicChr na, -1: -1
10SPTA1NM_003126.2(SPTA1): c.2806-13T> GSNVPathogenicrs757147440GRCh37Chr 1, 158626459: 158626459
11SPTA1SPTA1, IVS22DS, G-A, +5SNVPathogenicChr na, -1: -1

Expression for genes affiliated with Pyropoikilocytosis

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Search GEO for disease gene expression data for Pyropoikilocytosis.

Pathways for genes affiliated with Pyropoikilocytosis

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Pathways related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1SPTA1, SPTB
2
Show member pathways
9.1SPTA1, SPTB
39.1SPTA1, SPTB

GO Terms for genes affiliated with Pyropoikilocytosis

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Cellular components related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spectrinGO:00080919.7SPTA1, SPTB
2intrinsic component of the cytoplasmic side of the plasma membraneGO:00312359.2SPTA1, SPTB
3actin cytoskeletonGO:00156299.1SPTA1, SPTB
4spectrin-associated cytoskeletonGO:00147318.8SPTA1, SPTB

Biological processes related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ER to Golgi vesicle-mediated transportGO:00068889.5SPTA1, SPTB
2actin filament cappingGO:00516939.4SPTA1, SPTB
3MAPK cascadeGO:00001659.2SPTA1, SPTB
4positive regulation of GTPase activityGO:00435479.1SPTA1, SPTB
5axon guidanceGO:00074119.1SPTA1, SPTB

Molecular functions related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.1SPTA1, SPTB
2structural constituent of cytoskeletonGO:00052009.1SPTA1, SPTB
3Ras guanyl-nucleotide exchange factor activityGO:00050888.8SPTA1, SPTB

Sources for Pyropoikilocytosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet